G100A (p.Gly100Ala) variant of DNAH5 (Dynein axonemal heavy chain 5)
G100A (p.Gly100Ala) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G100A (p.Gly100Ala) variant details
- p.Gly100Ala
- rs144236383
- ClinGen CA3205215
- ClinVar RCV000244963
- ClinVar RCV000344003
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.03
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.43
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)